Articles with public access mandates - Andrea LegatiLearn more
Not available anywhere: 3
Homozygous mutations in C1QBP as cause of progressive external ophthalmoplegia (PEO) and mitochondrial myopathy with multiple mtDNA deletions
S Marchet, A Legati, A Nasca, I Di Meo, M Spagnolo, N Zanetti, ...
Human Mutation 41 (10), 1745-1750, 2020
Mandates: Government of Italy
Homozygous variant in OTX2 and possible genetic modifiers identified in a patient with combined pituitary hormone deficiency, ocular involvement, myopathy …
A Catania, A Legati, L Peverelli, L Nanetti, S Marchet, N Zanetti, ...
American Journal of Medical Genetics Part A 179 (5), 827-831, 2019
Mandates: Fondazione Telethon, Italy
Mitochondrial DNA Sequencing and Heteroplasmy Quantification by Next Generation Sequencing
A Legati, D Ghezzi, C Viscomi
Mitochondrial DNA: Methods and Protocols, 381-395, 2023
Mandates: Government of Italy
Available somewhere: 37
Mutations in XPR1 cause primary familial brain calcification associated with altered phosphate export
A Legati, D Giovannini, G Nicolas, U López-Sánchez, B Quintáns, ...
Nature genetics 47 (6), 579-581, 2015
Mandates: US National Institutes of Health, National Institute of Health and Medical …
New genes and pathomechanisms in mitochondrial disorders unraveled by NGS technologies
A Legati, A Reyes, A Nasca, F Invernizzi, E Lamantea, V Tiranti, ...
Biochimica et Biophysica Acta (BBA)-Bioenergetics 1857 (8), 1326-1335, 2016
Mandates: Fondazione Telethon, Italy, UK Medical Research Council, European Commission …
Brain calcification process and phenotypes according to age and sex: Lessons from SLC20A2, PDGFB, and PDGFRB mutation carriers
G Nicolas, C Charbonnier, RR de Lemos, AC Richard, O Guillin, D Wallon, ...
American Journal of Medical Genetics Part B: Neuropsychiatric Genetics 168 …, 2015
Mandates: US National Institutes of Health, National Institute of Health and Medical …
Update and Mutational Analysis of SLC20A2: A Major Cause of Primary Familial Brain Calcification
RR Lemos, EM Ramos, A Legati, G Nicolas, EM Jenkinson, JH Livingston, ...
Human mutation 36 (5), 489-495, 2015
Mandates: National Institute for Health Research, UK
Biallelic Mutations in DNM1L are Associated with a Slowly Progressive Infantile Encephalopathy
A Nasca, A Legati, E Baruffini, C Nolli, I Moroni, A Ardissone, P Goffrini, ...
Human mutation 37 (9), 898-903, 2016
Mandates: Fondazione Telethon, Italy, Government of Italy
LYRM7 mutations cause a multifocal cavitating leukoencephalopathy with distinct MRI appearance
C Dallabona, TEM Abbink, R Carrozzo, A Torraco, A Legati, ...
Brain 139 (3), 782-794, 2016
Mandates: Government of Italy
Primary brain calcification: an international study reporting novel variants and associated phenotypes
EM Ramos, M Carecchio, R Lemos, J Ferreira, A Legati, RL Sears, ...
European Journal of Human Genetics 26 (10), 1462-1477, 2018
Mandates: US National Institutes of Health, National Institute of Health and Medical …
A novel mutation P112H in the TARDBP gene associated with frontotemporal lobar degeneration without motor neuron disease and abundant neuritic amyloid …
F Moreno, GD Rabinovici, A Karydas, Z Miller, SC Hsu, A Legati, J Fong, ...
Acta neuropathologica communications 3, 1-13, 2015
Mandates: US National Institutes of Health, Government of Spain
A slowly progressive mitochondrial encephalomyopathy widens the spectrum of AIFM1 disorders
A Ardissone, G Piscosquito, A Legati, T Langella, E Lamantea, ...
Neurology 84 (21), 2193-2195, 2015
Mandates: Fondazione Telethon, Italy, Fondazione Cariplo, Government of Italy
Not only dominant, not only optic atrophy: expanding the clinical spectrum associated with OPA1 mutations
A Nasca, T Rizza, M Doimo, A Legati, A Ciolfi, D Diodato, C Calderan, ...
Orphanet journal of rare diseases 12, 1-10, 2017
Mandates: Fondazione Telethon, Italy, Government of Italy
Familial behavioral variant frontotemporal dementia associated with astrocyte-predominant tauopathy
I Ferrer, A Legati, JC García-Monco, M Gomez-Beldarrain, M Carmona, ...
Journal of Neuropathology & Experimental Neurology 74 (4), 370-379, 2015
Mandates: US National Institutes of Health, Government of Spain
Clinical and Biochemical Features in a Patient With Mitochondrial Fission Factor Gene Alteration
A Nasca, F Nardecchia, A Commone, M Semeraro, A Legati, B Garavaglia, ...
Frontiers in genetics 9, 625, 2018
Mandates: Fondazione Telethon, Italy
Clinical‐genetic features and peculiar muscle histopathology in infantile DNM1L‐related mitochondrial epileptic encephalopathy
D Verrigni, M Di Nottia, A Ardissone, E Baruffini, A Nasca, A Legati, ...
Human mutation 40 (5), 601-618, 2019
Mandates: Fondazione Telethon, Italy, Government of Italy
KARS-related diseases: progressive leukoencephalopathy with brainstem and spinal cord calcifications as new phenotype and a review of literature
A Ardissone, D Tonduti, A Legati, E Lamantea, R Barone, I Dorboz, ...
Orphanet Journal of Rare Diseases 13, 1-10, 2018
Mandates: Fondazione Telethon, Italy
ATPase Domain AFG3L2 Mutations Alter OPA1 Processing and Cause Optic Neuropathy
L Caporali, S Magri, A Legati, V Del Dotto, F Tagliavini, F Balistreri, ...
Annals of neurology 88 (1), 18-32, 2020
Mandates: US National Institutes of Health, Fondazione Telethon, Italy, UK Medical …
Current and new next-generation sequencing approaches to study mitochondrial DNA
A Legati, N Zanetti, A Nasca, C Peron, C Lamperti, E Lamantea, D Ghezzi
The Journal of Molecular Diagnostics 23 (6), 732-741, 2021
Mandates: Government of Italy
GARFIELD-NGS: genomic vARiants FIltering by dEep Learning moDels in NGS
V Ravasio, M Ritelli, A Legati, E Giacopuzzi
Bioinformatics 34 (17), 3038-3040, 2018
Mandates: Fondazione Cariplo, Government of Italy
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